Canonical Allele Identifier: CA344912582

Gene: USH2A

Linked Data

• ClinVar Variation Id: 2817169
• ClinVar RCV Id: RCV003711142
• MyVariant Identifiers: chr1:g.216498844G>A (hg19) ; chr1:g.216325502G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216325502G>A , CM000663.2:g.216325502G>A	GRCh38
NC_000001.10:g.216498844G>A , CM000663.1:g.216498844G>A	GRCh37
NC_000001.9:g.214565467G>A	NCBI36
NG_009497.1:g.102895C>T
NG_009497.2:g.102947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.946C>T MANE Select	ENSP00000305941.3:p.Gln316Ter
ENST00000674083.1:c.946C>T	ENSP00000501296.1:p.Gln316Ter
ENST00000307340.7:c.946C>T	ENSP00000305941.3:p.Gln316Ter
ENST00000366942.3:c.946C>T	ENSP00000355909.3:p.Gln316Ter
NM_007123.5:c.946C>T	NP_009054.5:p.Gln316Ter
NM_206933.2:c.946C>T	NP_996816.2:p.Gln316Ter
NM_206933.3:c.946C>T	NP_996816.2:p.Gln316Ter
NM_007123.6:c.946C>T	NP_009054.6:p.Gln316Ter
NM_206933.4:c.946C>T MANE Select	NP_996816.3:p.Gln316Ter